Results 121 to 130 of about 10,054 (208)

A case report of unsuccessful enzyme replacement therapy in perinatal hypophosphatasia: impact of comorbid tetralogy of Fallot, prematurity, and novel variants

Journal of Rare Diseases
Hypophosphatasia (HPP) is a rare inborn error of metabolism characterized by defective bone mineralization due to alkaline phosphatase (ALP) deficiency encoded by the gene ALPL (Orphanet J Rare Dis 2:40, 2007), (Am J Med 22:730-746, 1957).
Tram Le, Bridget Fitzgerald, Michael Chomat, Jamie Sinton   +3 more
doaj   +1 more source

PCR detection of a Bc/l RFLP in the human ALPL gene

Nucleic Acids Research, 1991
T, Okuyama, N, Matsuo, J, Kudoh, N, Shimizu   +3 more
openaire   +3 more sources

Lack of association of non‐synonymous FUT2 and ALPL polymorphisms with venous thrombosis [PDF]

Journal of Thrombosis and Haemostasis, 2012
D-A, Tregouet, M, Sabater-Lleal, M, Bruzelius, J, Emmerich, P, Amouyel, J-F, Dartigues, H, Kieler, P-E, Morange   +7 more
openaire   +2 more sources

Estudio comparativo de características metabólicas del M. gluteus medius en equinos y bovinos

Revista Científica, 2010
Se hicieron comparaciones de las características metabólicas del M. gluteus medius de doce (12) caballos pura sangre y de cuarenta (40) vacas mestizas.
Noelina Hernández, Sonia Torres, Juan De Sanctis, Magdalena Pulido, Luis Sucre   +4 more
doaj  

Disease burden by ALPL variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry

Background Hypophosphatasia (HPP) is a rare metabolic disease caused by autosomal dominant or recessive inheritance of ALPL variants resulting in low alkaline phosphatase activity. The objective of this analysis was to compare HPP disease burden between
Dahir, Kathryn M., Greenberg, Cheryl R., Ozono, Keiichi, Högler, Wolfgang, Petryk, Anna, Linglart, Agnès, Martos-Moreno, Gabriel Á., Fang, Shona, Seefried, Lothar, Kishnani, Priya S., Mowrey, William R., Dahir, Kathryn, Mowrey, William, Martos-Moreno, Gabriel Á, Greenberg, Cheryl, Kishnani, Priya   +15 more
core   +1 more source

Creation and characterization of novel knock-in mouse models of hypophosphatasia. [PDF]

JBMR Plus
Okawa R, Ochiai M, Kurosaka H, Kadota T, Takagi M, Suehiro Y, Okawa H, Naka S, Yamaguchi S, Horike SI, Daikoku T, Watanabe A, Matsumoto-Nakano M, Imazato S, Michigami T, Ozono K, Yamashiro T, Nakano K.   +17 more
europepmc   +1 more source

Correction: Cortical bone loss, impaired mineralization, and reduced adiposity contributing to chronic bone pain in SFRP4-related skeletal disease with an ALPL variant. [PDF]

Front Endocrinol (Lausanne)
Lizcano F, Avilés E, López C, Maradei-Anaya S, Ballesteros-García MC, Bustamante L, Luna F, O'Meara M, Valenzuela A.   +8 more
europepmc   +1 more source

Hypophosphatasia: Results of a Country-Wide Selective Screening Program Using NGS Technology as a First-Tier Test. [PDF]

Int J Mol Sci
Pushkov AA, Zhanin IS, Chudakova DA, Rusakova AA, Demianov DS, Pakhomov AV, Koroleva VB, Koshevaya YS, Burlachenko AS, Eismont YA, Glotov OS, Fisenko AP, Savostyanov KV.   +12 more
europepmc   +1 more source

Preoperative Serum Alkaline Phosphatase Predicts Arteriovenous Fistula Maturation Failure. [PDF]

Kidney Int Rep
Si T, Yu H, Shen Z, Chen G, Shi Z, Wu S, Ma S, Ren B, Gu H, Hu D, Li C.   +10 more
europepmc   +1 more source

Air Pollution-Associated Intracellular Metals, Immune Gene Expression, and Erythrocyte Indices in COPD with Anemia. [PDF]

Int J Chron Obstruct Pulmon Dis
Dinh CT, Chang JH, Chen TT, Lai CH, Chen KY, Feng PH, Lee KY, Tseng CH, Tran HM, Yuan TH, Ho SC, Wu SM, Chuang HC.   +12 more
europepmc   +1 more source